Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier and prenatal diagnosis and prediction of risk for the development of inhibitors. The PedNet Registry collects clinical, genetic, and phenotypic data prospectively on more than 2000 children with hemophilia. The genetic re...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: Andersson, Nadine G., Labarque, Veerle, Letelier, Anna, Mancuso, Maria Elisa, Bührlen, Martina, Fischer, Kathelijn, Kartal‐Kaess, Mutlu, Koskenvuo, Minna, Mikkelsen, Torben, Ljung, Rolf
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2020
Gaiak:
Databases
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756260/
https://ncbi.nlm.nih.gov/pubmed/32935414
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24117
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